Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation

Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation

The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. Th...

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Bibliographic Details
Main Authors: Annie Ting Gee Chiu MBBS(HK), MRCPCH, Sophelia Hoi Shan Chan MBBS(HK), FHKAM(Paed), FHKCPaed, Shun Ping Wu MBBS, (HK), FHKAM(Paed), FHKCPaed, Shun Hin Ting MBBS, (HK), FHKCPath, FHKAM(Path), Brian Hon Yin Chung MBBS, (Hons), FHKAM(Paed), FHKCPaed, Angel On Kei Chan MD, FRCPA, FHKCPath, FHKAM(Path), Virginia Chun Nei Wong MBBS(HK), FHKAM(Paed), FHKCPaed
Format: Article
Language:English
Published: SAGE Publishing 2018-04-01
Series:Child Neurology Open
Online Access:https://doi.org/10.1177/2329048X18769811

Internet

https://doi.org/10.1177/2329048X18769811

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